They identify a key mutation to keep cholesterol at bay

A team of researchers from different Chinese institutions has identified a genetic mutation that, in part, favors the regulation of cholesterol levels in the bloodstream. In an essay published in the journal Science, this group of experts in life sciences, pathogenesis and molecular biology describes how the aforementioned mutation originates a key protein in that process.

Cholesterol is an indispensable molecule for life; among other substances, it intervenes in the production of different hormones, bile salts or vitamin D. However, when it is deposited in the walls of the arteries it can cause its hardening or narrowing, which is known as atherosclerosis. This is one of the most frequent causes of many heart diseases and strokes. Well, most blood cholesterol is composed of low density lipoproteins (LDL-c), which is known as “bad” cholesterol. The higher the levels of the same, the greater are also the risks of suffering from any of the aforementioned conditions.

The diet can also affect cholesterol levels – some foods, such as red meats or certain dairy products, contribute to its increase – although different studies have shown that genetics also play a role in this. Now, these scientists try to elucidate what genetic factors make it accumulate more in the arteries of some people and less in those of others.

With cholesterol in the soil

His work focused on the analysis of the gene pool of a family in which all its members, except one, had abnormally low levels of LDL-C in their blood. According to the researchers, they were able to isolate a very specific genetic mutation, which differed in that individual. Encouraged by the results, they decided to extend their study and carry out genetic tests on 509 ethnic Kazakhs, in which, similarly, these low-density proteins are usually present in smaller sizes and to which the aforementioned family group also belonged.

Analysis of the data showed that individuals with low levels of LDL-C in their blood also had the genetic mutation they had detected. In those who did not have it, they were normal. A detailed study revealed that it was involved in the production of a protein, which they named LIMA1. This, the researchers deduced, worked as a regulator of LDL-c.

To try to deepen this issue, they carried out more studies, in this case in mice. In this way, they realized that the protein seemed to be expressed in the small intestine. In a statement, those responsible for the finding also point out that the protein in question can be synthesized, which, in the future, could be used to develop new drugs capable of reducing cholesterol levels and the risk of suffering some of the ills related to that phenomenon.